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Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) and the mutant zinc transporter ZIP13

The zinc transporter protein ZIP13 plays crucial roles in bone, tooth, and connective tissue development, and its dysfunction is responsible for the spondylocheirodysplastic form of Ehlers-Danlos syndrome (SCD-EDS, OMIM 612350). We recently reported that the pathogenic mutations in ZIP13 reduce its...

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Detalhes bibliográficos
Publicado no:Rare Dis
Main Authors: Bin, Bum-Ho, Hojyo, Shintaro, Ryong Lee, Tae, Fukada, Toshiyuki
Formato: Artigo
Idioma:Inglês
Publicado em: Taylor & Francis 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4755239/
https://ncbi.nlm.nih.gov/pubmed/26942106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/21675511.2014.974982
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